Gabriel S. Macedo
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View article: Mapping breast and prostate cancer in the Brazilian public health system: study protocol of the Onco-Genomas Brasil
Mapping breast and prostate cancer in the Brazilian public health system: study protocol of the Onco-Genomas Brasil Open
Background Breast and prostate cancers are the most common malignancies diagnosed in women and men respectively, and present with great clinical heterogeneity, even in tumors with the same histology and same site of origin. Somatic and ger…
View article: Cancer Risk Factors in Southern Brazil: Report of a Comprehensive, Matched Case-Control Study
Cancer Risk Factors in Southern Brazil: Report of a Comprehensive, Matched Case-Control Study Open
PURPOSE To evaluate cancer risk factors among cancer cases and controls from Southern Brazil, to analyze a multigene hereditary panel testing (MGPT, 26 genes) for breast cancer (BC) and colorectal cancer (CCR) cases diagnosed age younger t…
View article: Supplementary Tables S7-S10 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S7-S10 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S7: Comparative analysis of the frequencies of mutations in luminal A-like and luminal B-like male breast cancer. Supplementary Table S8: Comparative analysis of genes affecting selected functional pathways. Supplementa…
View article: Supplementary Tables S4-S6 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S4-S6 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S4: Somatic single nucleotide variants (SNVs) and insertion/deletions (indels). Supplementary Table S5: Frequencies of mutations found in ER-positive/HER2-negative male breast cancer vs subsets of female breast cancer f…
View article: Data from The Genomic Landscape of Male Breast Cancers
Data from The Genomic Landscape of Male Breast Cancers Open
Purpose: Male breast cancer is rare, and its genomic landscape has yet to be fully characterized. Lacking studies in men, treatment of males with breast cancer is extrapolated from results in females with breast cancer. We sought to define…
View article: Supplementary Figures S1-S3 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S1-S3 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure 1: Validation of somatic mutations in orthogonal methods. Supplementary Figure S2: Mutations and copy number alterations in ER-positive/HER2-negative male and female breast cancers. Supplementary Figure S3: Cancer cell…
View article: Supplementary Methods from The Genomic Landscape of Male Breast Cancers
Supplementary Methods from The Genomic Landscape of Male Breast Cancers Open
Supplementary Methods detailing the methods employed for Copy number alteration (CNA) analysis, Sanger sequencing and supplementary references.
View article: Supplementary Figures S4 and S5 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S4 and S5 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure S4: Morphologic and immunophenotypic features of case MB-T88. Supplementary Figure S5: GATA3 mutational spectrum in male breast cancer and female breast cancer and the impact of selected mutations on the survival of ma…
View article: Supplementary Tables S11 and S12 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S11 and S12 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S11: Comparative analysis of the frequencies of mutations in luminal A-like male breast cancers and subsets of luminal A female breast cancers from the TCGA study. Supplementary Table S12: Comparative analysis of the fr…
View article: Supplementary Tables S1-S3 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S1-S3 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S1: Histologic and immunohistochemical profiling and molecular classification of 59 male breast cancers. Supplementary Table S2: Antibody clones and amplification primers used. Supplementary Table S3: List of 241 genes …
View article: Supplementary Tables S7-S10 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S7-S10 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S7: Comparative analysis of the frequencies of mutations in luminal A-like and luminal B-like male breast cancer. Supplementary Table S8: Comparative analysis of genes affecting selected functional pathways. Supplementa…
View article: Supplementary Tables S1-S3 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S1-S3 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S1: Histologic and immunohistochemical profiling and molecular classification of 59 male breast cancers. Supplementary Table S2: Antibody clones and amplification primers used. Supplementary Table S3: List of 241 genes …
View article: Supplementary Figures S6-S10 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S6-S10 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure S6: Amplifications in ER-positive/HER2-negative male and female breast cancers. Supplementary Figure S7: Copy number alterations in ER-positive/HER2-negative male and non-lobular female breast cancers. Supplementary Fi…
View article: Supplementary Figures S1-S3 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S1-S3 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure 1: Validation of somatic mutations in orthogonal methods. Supplementary Figure S2: Mutations and copy number alterations in ER-positive/HER2-negative male and female breast cancers. Supplementary Figure S3: Cancer cell…
View article: Data from The Genomic Landscape of Male Breast Cancers
Data from The Genomic Landscape of Male Breast Cancers Open
Purpose: Male breast cancer is rare, and its genomic landscape has yet to be fully characterized. Lacking studies in men, treatment of males with breast cancer is extrapolated from results in females with breast cancer. We sought to define…
View article: Supplementary Tables S11 and S12 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S11 and S12 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S11: Comparative analysis of the frequencies of mutations in luminal A-like male breast cancers and subsets of luminal A female breast cancers from the TCGA study. Supplementary Table S12: Comparative analysis of the fr…
View article: Supplementary Figures S6-S10 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S6-S10 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure S6: Amplifications in ER-positive/HER2-negative male and female breast cancers. Supplementary Figure S7: Copy number alterations in ER-positive/HER2-negative male and non-lobular female breast cancers. Supplementary Fi…
View article: Supplementary Figures S4 and S5 from The Genomic Landscape of Male Breast Cancers
Supplementary Figures S4 and S5 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Figure S4: Morphologic and immunophenotypic features of case MB-T88. Supplementary Figure S5: GATA3 mutational spectrum in male breast cancer and female breast cancer and the impact of selected mutations on the survival of ma…
View article: Supplementary Tables S4-S6 from The Genomic Landscape of Male Breast Cancers
Supplementary Tables S4-S6 from The Genomic Landscape of Male Breast Cancers Open
Supplementary Table S4: Somatic single nucleotide variants (SNVs) and insertion/deletions (indels). Supplementary Table S5: Frequencies of mutations found in ER-positive/HER2-negative male breast cancer vs subsets of female breast cancer f…
View article: Supplementary Methods from The Genomic Landscape of Male Breast Cancers
Supplementary Methods from The Genomic Landscape of Male Breast Cancers Open
Supplementary Methods detailing the methods employed for Copy number alteration (CNA) analysis, Sanger sequencing and supplementary references.
View article: Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas
Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas Open
The TP53 3'UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of polyadenylation and miRNA regulation. Its prevalence is not yet known in all tumor…
View article: Complex Evolutionary History of the South American Fox Genus Lycalopex (Mammalia, Carnivora, Canidae) Inferred from Multiple Mitochondrial and Nuclear Markers
Complex Evolutionary History of the South American Fox Genus Lycalopex (Mammalia, Carnivora, Canidae) Inferred from Multiple Mitochondrial and Nuclear Markers Open
The canid genus Lycalopex comprises six recently diversified South American species whose evolutionary relationships have been remarkably challenging to resolve. We analyzed 6000 bp of mitochondrial DNA (mtDNA) from 55 Lycalopex individual…
View article: Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil
Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil Open
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age.…
View article: Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions
Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions Open
Patients with metastatic castration-resistant prostate cancer (mCRPC) have an average survival of only 13 months. Identification of novel predictive and actionable biomarkers in the homologous recombination repair (HRR) pathway in up to a …
View article: A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. Open
Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker …
View article: Genomic characterization of small cell carcinomas of the uterine cervix
Genomic characterization of small cell carcinomas of the uterine cervix Open
Small cell carcinoma (SCC) of the uterine cervix is a rare and aggressive form of neuroendocrine carcinoma, which resembles small cell lung cancer (SCLC) in its histology and poor survival rate. Here, we sought to define the genetic underp…
View article: Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?
Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients? Open
In Southern and Southeastern Brazil, there is a germline pathogenic variant with incomplete penetrance located in the oligomerization domain of TP53 , c.1010G>A (p.Arg337His). Due to a founder effect, the variant is present in 0.3% of t…
View article: Additional file 1 of Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil
Additional file 1 of Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil Open
Additional file 1. Ancestry profile of samples (A) Individual European. African. and Native American ancestry inferred from 61 ancestry-informative markers in our all sample. Patients (green) and controls (orange) were compared with indivi…
View article: Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country
Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country Open
PURPOSE Adenocarcinoma is the most common histologic subtype of non–small-cell lung cancer, representing 40% of all diagnoses. Several biomarkers are currently used to determine patient eligibility for targeted treatments, including analys…